Document Detail


Roentgenographic findings in fucosidosis type 2.
MedLine Citation:
PMID:  167599     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
The roentgen findings are described in 2 siblings with fucosidosis Type 2. They have mild dysostosis multiplex with predominant involvement of the spine, pelvis, and femoral capital epiphyses. The roentgen descriptions of the previously reported cases are reviewed. Based on the descriptive data currently available, there are no consistent differences which would permit the distinction of fucosidosis Type 1 from Type 2 on roentgen grounds.
Authors:
P W Brill; N G Beratis; B G Kousseff; K Hirschhorn
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  The American journal of roentgenology, radium therapy, and nuclear medicine     Volume:  124     ISSN:  0002-9580     ISO Abbreviation:  Am J Roentgenol Radium Ther Nucl Med     Publication Date:  1975 May 
Date Detail:
Created Date:  1975-09-29     Completed Date:  1975-09-29     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  7605534     Medline TA:  Am J Roentgenol Radium Ther Nucl Med     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  75-82     Citation Subset:  AIM; IM    
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MeSH Terms
Descriptor/Qualifier:
Age Determination by Skeleton
Bone Diseases, Developmental / etiology,  radiography*
Bone and Bones / radiography*
Child
Child, Preschool
Clavicle / radiography
Disaccharidases / deficiency*
Facial Bones / radiography
Femur / radiography
Fucose / metabolism*
Heart / radiography
Hip / radiography
Humans
Humerus / radiography
Lung / radiography
Male
Mucopolysaccharidoses / radiography*
Pelvic Bones / radiography
Radius / radiography
Ribs / radiography
Scapula / radiography
Skull / radiography
Spine / radiography
Ulna / radiography
alpha-L-Fucosidase / deficiency*
Chemical
Reg. No./Substance:
3713-31-3/Fucose; EC 3.2.1.-/Disaccharidases; EC 3.2.1.51/alpha-L-Fucosidase

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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